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21 Cards in this Set
- Front
- Back
- 3rd side (hint)
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Xeroderma Pigmentosum
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Caretaker inactivation (auto recessive). XP genes (A-G). Defects in NT excision repair (UV light --> pyrimidine dimers).
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Skin Neoplasia, photosensitivity, premature aging.
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Ataxia Telangiectasia
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Caretaker inactivation (auto recessive). ATM gene (11q) --> regulates DNA damage by p53. Defect in recombination repair signals at check point.
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Leukemia, Lymphomas.
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Hereditary Non-polyposis Colorectal CA
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Caretaker inactivation. hMSH2, 6; hMLH1; hPMS1,2 genes (2p, 3p, 7p, 2q). Defect in mismatch repair.
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Colorectal, endometrial carcinoma.
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Bloom Syndrome
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Caretaker inactivation. Helicase gene (15q). Defective helicase EZ --> separates DNA double helix.
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Leukemia, Lymphoma, solid epithelial CA.
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Breast/ Ovarian CA
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Caretaker inactivation. BRCA1 (17q), BRCA2 (13q). Defective DNA repair.
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BRCA1: breast & ovarian carcinoma.
BRCA2: female & male breast carcinoma, prostate CA. |
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Multiple Endocrine Neoplasia Type 2 (A & B)
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Oncogene activation (auto dom). RET gene (10q). Mutation in transmembrane Receptor TK (gain of function).
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Medullary thyroid carcinoma, pheochromocytoma, mucosal ganglioneuromas (2B only).
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Hereditary Papillary Renal Cell Carcinoma
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Oncogene activation. MET gene (7q). Transmembrane receptor TK.
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Papillary renal cell carcinoma.
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Familial Melanoma (10% familial)
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Oncogene activation. Mutation in CDK4 or (CDKN2A/p16ink tumor suppressor) 12q. Defect: cell cycle regulation @ G1/S check pt.
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Cutaneous malignant melanoma (tumor of melanocytes). Variable expression; often seen w/ other syndromes (XP).
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Cowden Syndrome
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Gatekeeper inactivation (auto dom). PTEN (MMAC1/TEP1) gene (10q). Mutation in Lipid P-tase (de-P-late PIP3) --> stops AKT signaling.
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Breast carcinoma, Thyroid CA (follicular adenoma & carcinoma), Endometrial carcinoma, Thyroid papillary carcinoma.
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Familial Adenomatous Polyposis (FAP)
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Gatekeeper inactivation (adolescent onset). APC gene (5q) --> cell proliferation, migration, adhesion, cytoskeleton, chromosomes.
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Colorectal polyps; increased risk for GI cancer. (Papillary thyroid carcinoma).
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Juvenile Polyposis Coli
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Gatekeeper inactivation. Smad4 (18q) --> TGF-B signaling. BMPR1-A (10q) --> Ser/Thr kinase-R.
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Juvenile polyps in GI tract, colorectal & GI malignancy.
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Li-Fraumeni Syndrome
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Gatekeeper inactivation. TP53 gene (17p). Transcription factor, regulates cell cycle @ G1/S chk pt, activates apoptosis. hCHK2 gene (22q) --> check pt kinase (DNA damage repair, activates p53).
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Breast CA, Sarcomas, Brain tumors, Adrenocortical tumors, leukemia.
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Multiple Endocrine Neoplasia Type 1
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Gatekeeper inactivation. MEN1 gene (11q) --> mediates transcription of Jun D
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1ary Hyperparathyroidism, Pancreatic islet tumors, Ant Pituitary tumors.
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Nevoid Basal Cell Carcinoma
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Gatekeeper inactivation. PTC gene (9q). Negatively regulates cell division.
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Basal cell carcinoma
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Neurofibromatosis Type 1
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Gatekeeper inactivation (auto dom). NF-1 gene (17q) --> inhibits Ras signaled cell proliferation --> Ras constantly active.
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Neurofibrosarcoma, Astrocytoma, Pheochromocytoma, Melanoma, Rhabdomyosarcoma, CML.
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Neurofibromatosis Type 2
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Gatekeeper inactivation. NF-2 gene (22q) --> maintain cytoskeleton, suppression adhesion & motility.
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Bilateral vestibular Schwannomas, Meningiomas, Spinal tumors, Skin tumors.
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Peutz-Jeghers Syndrome
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Gatekeeper inactivation. STK11 gene (19p) --> Ser/Thr kinase.
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GI tract carcinoma, Breast carcinoma, Testicular CA, Gyn malignancy.
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Retinoblastoma
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Gatekeeper inactivation. RB gene (13q) -->> cell cycle regulation: inhibits E2F transcription, apoptosis.
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Pediatric retinal tumors.
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Tuberous Sclerosis
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Gatekeeper inactivation. TSC1, 2 genes (9p, 16p) --> cytoskeleton.
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Multiple hamartoma, Renal cell carcinoma, Astrocytoma.
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Von Hippel Landau
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Gatekeeper inactivation. VHL gene (3p) --> fibronectin assembly; part of ubiquitin ligase complex.
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Renal cell carcinoma, Retinal & CNS hemangioblastomas, pheochromocytoma.
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Wilms tumor
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Gatekeeper inactivation. WT gene (11p) --> regulates transcription.
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Pediatric kidney tumors.
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